Disease #07024 (COXPD52 (combined oxidative phosphorylation deficiency, type 52), OMIM:619386)

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Official abbreviation	COXPD52
Name	combined oxidative phosphorylation deficiency, type 52
OMIM ID	619386
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	NFS1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2023-09-18 12:10:28 +02:00 (CEST)
Date last edited	N/A

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